Gaucher's disease: a genetic disease detected in skin fibroblast cultures.
Skin fibroblasts from three adult patients with chronic noncerebral Gaucher's disease, three children of one of the patients, three parents, and six normal individuals were grown in cell culture. Giant fibroblasts containing metachromatic material were seen in all cultures derived from affected individuals and heterozygous carriers but not in those derived from normal individuals.
D046508:Culture Techniques; D005347:Fibroblasts / Q000473:pathology*; D005776:Gaucher Disease / Q000235:genetics / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D012867:Skin / Q000166:cytology